ClinVar Genomic variation as it relates to human health
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Likely pathogenic
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
GAMT | - | - |
GRCh38 GRCh37 |
465 | 661 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (2) |
|
Mar 23, 2023 | RCV003159291.2 | |
Pathogenic (1) |
|
Nov 6, 2023 | RCV003586387.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024